ABCG5 gene related symptoms and diseases
All the information presented here about the ABCG5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ABCG5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Coronary artery atherosclerosis | Very Common - Between 80% and 100% cases |
| Hypercholesterolemia | Very Common - Between 80% and 100% cases |
| Arthralgia | Very Common - Between 80% and 100% cases |
| Premature coronary artery atherosclerosis | Very Common - Between 80% and 100% cases |
| Xanthomatosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ABCG5 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Short stature
- Angina pectoris
- Left ventricular failure
- Precocious atherosclerosis
- Heart murmur
- Peripheral arterial stenosis
- Optic neuropathy
- Hyperlipidemia
And 48 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ABCG5 gene
Here you will find a list of rare diseases related to the ABCG5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SITOSTEROLEMIA
Alternate names
SITOSTEROLEMIA Is also known as stsl, phytosterolemia
Description
Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.
Most common symptoms of SITOSTEROLEMIA
- Short stature
- Pain
- Anemia
- Splenomegaly
- Abdominal pain
More info about SITOSTEROLEMIA
HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Alternate names
HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA Is also known as hofh
Most common symptoms of HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
- Hypertension
- Dyspnea
- Arthralgia
- Hepatic steatosis
- Sudden cardiac death
More info about HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
SOURCES: ORPHANET
Search interest in ABCG5
Potential gene panels for ABCG5 gene
Sitosterolemia, ABCG5, Sequencing Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the ABCG5 gene.
More info about this panel United States.
Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ATP11C ABCG5 ABCG8 COL4A1 PIEZO1
More info about this panel United States.
Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Panel by next-generation sequencing (NGS) that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ATP11C ABCG5 ABCG8
More info about this panel United States.
ABCG5 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ABCG5 gene.
More info about this panel United States.
ABCG5 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the ABCG5 gene.
More info about this panel United States.
Hemolytic Anemia Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hemolytic Anemia Deletion/Duplication Panel that also includes the following genes: RHAG SEC23B SLC2A1 SPTA1 SPTB TPI1 XK ABCG5 ABCG8 LPIN2
More info about this panel United States.
Red Blood Cell Membrane Disorders Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Red Blood Cell Membrane Disorders Deletion/Duplication Panel that also includes the following genes: RHAG SLC2A1 SPTA1 SPTB XK ABCG5 ABCG8 PIEZO1 EPB41 EPB42
More info about this panel United States.
Liver Diseases Deletion/duplication panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Deletion/duplication panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1 ABCG5 ABCG8 NPC2
More info about this panel United States.
Liver Diseases Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
More info about this panel United States.
Thrombocytopenia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5
More info about this panel United States.
Thrombocytopenia Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13
More info about this panel United States.
ABCG5 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ABCG5 gene.
More info about this panel Germany.
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis that also includes the following genes: SAR1B SLCO1B1 ABCG5 ABCG8 LMF1 SCARB1 APOA5 LDLRAP1 CETP PCSK9
More info about this panel Netherlands.
ABCG5. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCG5 gene.
More info about this panel Spain.
Hypercholesterolemia, familial (NGS panel for 15 genes) Panel
Portugal.
By CGC Genetics Hypercholesterolemia, familial (NGS panel for 15 genes) that also includes the following genes: ABCG5 ABCG8 APTX PPP1R17 LDLRAP1 PCSK9 EPHX2 GHR ITIH4 LDLR
More info about this panel Portugal.
Sitosterolemia Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Sitosterolemia that also includes the following genes: ABCG5 ABCG8
More info about this panel Germany.
Bleeding Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3
More info about this panel United States.
Sitosterolemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Sitosterolemia Sequencing Panel with CNV Detection that also includes the following genes: ABCG5 ABCG8
More info about this panel United States.
Comprehensive Cardiology Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Cardiology Sequencing Panel with CNV Detection that also includes the following genes: RYR1 RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCD SGCG BRAF
More info about this panel United States.
Sitosterolemia via ABCG5 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ABCG5 gene.
More info about this panel United States.
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel
United States.
By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS
More info about this panel United States.
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies that also includes the following genes: RHAG BPGM SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK ABCG5 ABCG8
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Dyslipidemias / Early atherosclerosis Panel
Spain.
By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1
More info about this panel Spain.
Familialhypercholesterolemia Extended Panel Panel
Spain.
By Health in Code Familialhypercholesterolemia Extended Panel that also includes the following genes: RYR1 SLCO1B1 SLC22A8 ABCG5 ABCG8 LDLRAP1 CH25H PCSK9 CPT2 COQ2
More info about this panel Spain.
Familial Hypercholesterolaemia Genetic Screen Panel
Australia.
By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA Familial Hypercholesterolaemia Genetic Screen that also includes the following genes: ABCG5 ABCG8 LDLRAP1 PCSK9 STAP1 APOE LDLR LIPA
More info about this panel Australia.
SITOSTEROLEMIA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SITOSTEROLEMIA that also includes the following genes: ABCG5 ABCG8
More info about this panel Spain.
Neonatal and Adult Cholestasis: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2
More info about this panel United States.
Amyotrophic Lateral Sclerosis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP ABCG5 ABHD12 FIG4 OPTN
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
ABCG5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCG5 gene.
More info about this panel United States.
Thrombocytopenia Panel Panel
Finland.
By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1
More info about this panel Finland.
Bleeding Disorder/Coagulopathy Panel Panel
Finland.
By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Hyperlipidemia Panel Panel
Finland.
By Blueprint Genetics Hyperlipidemia Panel that also includes the following genes: ABCG5 ABCG8 LMF1 APOA5 LDLRAP1 CREB3L3 PCSK9 GPIHBP1 ALMS1 APOC2
More info about this panel Finland.
Sitosterolemia Panel
Spain.
By Bioarray
This panel specifically test the ABCG5 gene.
More info about this panel Spain.
Sitosterolemia NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Sitosterolemia NGS and Deletion/Duplication Panel that also includes the following genes: ABCG5 ABCG8
More info about this panel United States.
ABCG5 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ABCG5 gene.
More info about this panel United States.
Sitosterolemia Panel
Canada.
By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute Sitosterolemia that also includes the following genes: ABCG5 ABCG8
More info about this panel Canada.
SITOSTEROLEMIA Panel
Spain.
By Laboratorio de Genetica Clinica SL SITOSTEROLEMIA that also includes the following genes: ABCG5 ABCG8
More info about this panel Spain.
Sitosterolemia , Sequencing ABCG5 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ABCG5 gene.
More info about this panel Spain.
Sitosterolemia , Panel Massive Sequencing (NGS) ABCG5, ABCG8 Genes Panel
Spain.
By Reference Laboratory Genetics Sitosterolemia , Panel Massive Sequencing (NGS) ABCG5, ABCG8 Genes that also includes the following genes: ABCG5 ABCG8
More info about this panel Spain.
Sitosterolemia: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Sitosterolemia: gene sequencing panel that also includes the following genes: ABCG5 ABCG8
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRKG2 SMG6 FIG4 DAXX TRPV6